A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?

  1. Lookup NU author(s)
  2. Dr Helen Swalwell
  3. Dr Kasia Tonska
  4. Dr Matthias Elstner
  5. Emeritus Professor Michael Sir Michael Rawlins
  6. Professor Doug Turnbull
  7. Professor Robert Taylor
Author(s)Swalwell H, Blakely E, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns D, Turnbull DM, Haller R, Davidson M, Taylor RW
Publication type Article
JournalEuropean Journal of Human Genetics
Year2008
Volume16
Issue10
Pages1265-1274
ISSN (print)1018-4813
ISSN (electronic)1476-5438
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PublisherNature Publishing Group
URLhttp://dx.doi.org/10.1038/ejhg.2008.65
DOI10.1038/ejhg.2008.65
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